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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hydrophthalmos
Summary
- Definition
- A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
- Super Class
- primary congenital glaucoma
External Links
- Disease Ontology
- DOID:11212
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
